Canonical Allele Identifier: CA385201150

Gene: RDH5

Linked Data

• MyVariant Identifiers: chr12:g.56115695C>A (hg19) ; chr12:g.55721911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55721911C>A , CM000674.2:g.55721911C>A	GRCh38
NC_000012.11:g.56115695C>A , CM000674.1:g.56115695C>A	GRCh37
NC_000012.10:g.54401962C>A	NCBI36
NG_008606.1:g.6545C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257895.10:c.533C>A MANE Select	ENSP00000257895.6:p.Ser178Tyr
ENST00000257895.9:c.533C>A	ENSP00000257895.5:p.Ser178Tyr
ENST00000257899.3:c.548C>A
ENST00000547072.5:c.242C>A	ENSP00000449927.1:p.Ser81Tyr
ENST00000548082.1:c.533C>A	ENSP00000447128.1:p.Ser178Tyr
ENST00000548123.1:c.300+417C>A
ENST00000548486.1:n.543C>A
ENST00000550412.5:c.*205C>A	ENSP00000447650.1:n.*205C>A
ENST00000550608.1:n.672C>A
ENST00000551946.5:c.*336C>A	ENSP00000450201.1:n.*336C>A
ENST00000553160.1:n.406-284C>A
ENST00000553187.5:n.543C>A
NM_001199771.1:c.533C>A	NP_001186700.1:p.Ser178Tyr
NM_002905.3:c.533C>A	NP_002896.2:p.Ser178Tyr
NR_037658.1:n.592C>A
NM_001199771.2:c.533C>A	NP_001186700.1:p.Ser178Tyr
NM_002905.5:c.533C>A MANE Select	NP_002896.2:p.Ser178Tyr
NM_001199771.3:c.533C>A	NP_001186700.1:p.Ser178Tyr